Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.
Nature Communications
Subramanian, Deepak N DN; Zethoven, Magnus M; McInerny, Simone S; Morgan, James A JA; Rowley, Simone M SM; Lee, Jue Er Amanda JEA; Li, Na N; Gorringe, Kylie L KL; James, Paul A PA; Campbell, Ian G IG
Publication Date: 2020-04-02
Variant appearance in text: ALDH1L2: 1809G>A; Trp603Ter
Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.
Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30
Variant appearance in text: ALDH1L2: W603X; rs146023221
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Nature Genetics
Jin, Sheng Chih SC; Homsy, Jason J; Zaidi, Samir S; Lu, Qiongshi Q; Morton, Sarah S; DePalma, Steven R SR; Zeng, Xue X; Qi, Hongjian H; Chang, Weni W; Sierant, Michael C MC; Hung, Wei-Chien WC; Haider, Shozeb S; Zhang, Junhui J; Knight, James J; Bjornson, Robert D RD; Castaldi, Christopher C; Tikhonoa, Irina R IR; Bilguvar, Kaya K; Mane, Shrikant M SM; Sanders, Stephan J SJ; Mital, Seema S; Russell, Mark W MW; Gaynor, J William JW; Deanfield, John J; Giardini, Alessandro A; Porter, George A GA; Srivastava, Deepak D; Lo, Cecelia W CW; Shen, Yufeng Y; Watkins, W Scott WS; Yandell, Mark M; Yost, H Joseph HJ; Tristani-Firouzi, Martin M; Newburger, Jane W JW; Roberts, Amy E AE; Kim, Richard R; Zhao, Hongyu H; Kaltman, Jonathan R JR; Goldmuntz, Elizabeth E; Chung, Wendy K WK; Seidman, Jonathan G JG; Gelb, Bruce D BD; Seidman, Christine E CE; Lifton, Richard P RP; Brueckner, Martina M
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.
Nature
Saleheen, Danish D; Natarajan, Pradeep P; Armean, Irina M IM; Zhao, Wei W; Rasheed, Asif A; Khetarpal, Sumeet A SA; Won, Hong-Hee HH; Karczewski, Konrad J KJ; O'Donnell-Luria, Anne H AH; Samocha, Kaitlin E KE; Weisburd, Benjamin B; Gupta, Namrata N; Zaidi, Mozzam M; Samuel, Maria M; Imran, Atif A; Abbas, Shahid S; Majeed, Faisal F; Ishaq, Madiha M; Akhtar, Saba S; Trindade, Kevin K; Mucksavage, Megan M; Qamar, Nadeem N; Zaman, Khan Shah KS; Yaqoob, Zia Z; Saghir, Tahir T; Rizvi, Syed Nadeem Hasan SNH; Memon, Anis A; Hayyat Mallick, Nadeem N; Ishaq, Mohammad M; Rasheed, Syed Zahed SZ; Memon, Fazal-Ur-Rehman FU; Mahmood, Khalid K; Ahmed, Naveeduddin N; Do, Ron R; Krauss, Ronald M RM; MacArthur, Daniel G DG; Gabriel, Stacey S; Lander, Eric S ES; Daly, Mark J MJ; Frossard, Philippe P; Danesh, John J; Rader, Daniel J DJ; Kathiresan, Sekar S
Publication Date: 2017-04-12
Variant appearance in text: ALDH1L2: 1809G>A; Trp603Ter
Integrated analysis of germline and somatic variants in ovarian cancer.
Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L